Full data view for gene TRNT1

Information The variants shown are described using the NM_182916.2 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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AscendingDNA change (cDNA)     

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Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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ID_report     

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?/. - c.-3C>T r.(=) p.(=) Unknown - VUS g.3170722C>T g.3129038C>T - - TRNT1_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.13C>T r.(?) p.(Leu5=) Unknown - likely benign g.3170737C>T - TRNT1(NM_001367321.1):c.13C>T (p.L5=) - TRNT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.33_46del r.(?) p.(Leu13GlufsTer2) Unknown - pathogenic g.3170757_3170770del g.3129073_3129086del - - TRNT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43C>T r.(?) p.(Arg15Cys) Unknown - VUS g.3170767C>T - TRNT1(NM_001367321.1):c.43C>T (p.R15C) - TRNT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67C>G r.(?) p.(Pro23Ala) Unknown - VUS g.3170791C>G g.3129107C>G - - TRNT1_000005 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs183596892 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
-/. - c.67C>G r.(?) p.(Leu23Val) Unknown - benign g.3170791C>G g.3129107C>G TRNT1(NM_182916.3):c.67C>G (p.P23A) - TRNT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105C>T r.(?) p.(Pro35=) Unknown - likely benign g.3170829C>T g.3129145C>T TRNT1(NM_182916.3):c.105C>T (p.P35=) - TRNT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107A>T r.(?) p.(Glu36Val) Unknown - VUS g.3170831A>T g.3129147A>T TRNT1(NM_182916.3):c.107A>T (p.E36V) - TRNT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128_130del r.(?) p.(Glu43del) Unknown - VUS g.3170852_3170854del - TRNT1(NM_001367321.1):c.128_130delAAG (p.E43del), TRNT1(NM_182916.2):c.126_128del (p.(Glu43del)) - TRNT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.128_130del r.(?) p.(Glu43del) Parent #1 - likely pathogenic g.3170852_3170854del g.3129168_3129170del 126_128delAGA - TRNT1_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 80 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.128_130del r.(?) p.(Glu43del) Unknown - pathogenic g.3170852_3170854del - TRNT1(NM_001367321.1):c.128_130delAAG (p.E43del), TRNT1(NM_182916.2):c.126_128del (p.(Glu43del)) - TRNT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.128_130del r.(?) p.(Glu43del) Parent #1 - likely pathogenic g.3170852_3170854del - c.128_130del - TRNT1_000017 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.148+5G>C r.spl? p.? Unknown - VUS g.3170877G>C g.3129193G>C TRNT1(NM_001302946.2):c.148+5G>C - TRNT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148+14A>G r.(=) p.(=) Unknown - likely benign g.3170886A>G - TRNT1(NM_182916.3):c.148+14A>G - TRNT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148+17C>T r.(=) p.(=) Unknown - likely benign g.3170889C>T - TRNT1(NM_182916.3):c.148+17C>T - TRNT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160A>G r.(?) p.(Lys54Glu) Unknown - VUS g.3178955A>G g.3137271A>G - - TRNT1_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.231T>C r.(?) p.(=) Unknown - likely benign g.3179026T>C - TRNT1(NM_001367321.1):c.231T>C (p.D77=) - TRNT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295C>T r.(?) p.(Arg99Trp) Unknown - pathogenic g.3179090C>T g.3137406C>T - - TRNT1_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs759826831 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. 3 c.295C>T r.(?) p.(Arg99Trp) Parent #1 - pathogenic g.3179090C>T - R99W/ D163V - TRNT1_000007 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 4 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
+/. 3 c.295C>T r.(?) p.(Arg99Trp) Parent #1 - pathogenic g.3179090C>T - R99W/ D163V - TRNT1_000007 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 5 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
+/. 3 c.295C>T r.(?) p.(Arg99Trp) Both (homozygous) - pathogenic g.3179090C>T - c.295C>T (p.Arg99Trp) - TRNT1_000007 - PubMed: Hull-2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Patient 1 PubMed: Hull-2016 - F yes - Indian - - - - 1 LOVD
+/. 3 c.295C>T r.(?) p.(Arg99Trp) Both (homozygous) - pathogenic g.3179090C>T - c.295C>T (p.Arg99Trp) - TRNT1_000007 - PubMed: Hull-2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Patient 2 PubMed: Hull-2016 - M yes - Indian - - - - 1 LOVD
+/. 3 c.295C>T r.(?) p.(Arg99Trp) Both (homozygous) - pathogenic g.3179090C>T - c.295C>T (p.Arg99Trp) - TRNT1_000007 - PubMed: Hull-2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Patient 3 PubMed: Hull-2016 - F yes - Indian - - - - 1 LOVD
+/. 3 c.329C>T r.(?) p.(Thr110Ile) Parent #1 - pathogenic g.3179124C>T - T110I/ D128G - TRNT1_000023 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 6 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+/. 3 c.329C>T r.(?) p.(Thr110Ile) Parent #1 - pathogenic g.3179124C>T - T110I/ D128G - TRNT1_000023 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 7 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
-?/. - c.331A>G r.(?) p.(Ile111Val) Unknown - likely benign g.3179126A>G g.3137442A>G TRNT1(NM_182916.3):c.331A>G (p.I111V) - TRNT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.331A>G r.(?) p.(Ile111Val) Unknown - likely benign g.3179126A>G - TRNT1(NM_182916.3):c.331A>G (p.I111V) - TRNT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.342+5G>T r.spl? p.? Parent #2 - pathogenic g.3179142G>T - c.342+5G>T - TRNT1_000024 - PubMed: Wedatilake-2016 - - Germline yes - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA - WES retinal disease Patient 2 PubMed: Wedatilake-2016 - M no - European - - - - 1 LOVD
-?/. - c.343-5T>C r.spl? p.? Unknown - likely benign g.3182189T>C - TRNT1(NM_182916.3):c.343-5T>C - TRNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.383A>G r.(?) p.(Asp128Gly) Parent #2 - pathogenic g.3182234A>G - T110I/ D128G - TRNT1_000025 - PubMed: Giannelou-2018 - rs148398677 Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 6 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+/. 4 c.383A>G r.(?) p.(Asp128Gly) Parent #2 - pathogenic g.3182234A>G - T110I/ D128G - TRNT1_000025 - PubMed: Giannelou-2018 - rs148398677 Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 7 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
-?/. - c.481+20C>A r.(=) p.(=) Unknown - likely benign g.3182352C>A - TRNT1(NM_182916.3):c.481+20C>A - TRNT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488A>G r.(?) p.(Asp163Gly) Unknown - VUS g.3186274A>G g.3144590A>G TRNT1(NM_182916.3):c.488A>G (p.D163G) - TRNT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.488A>T r.(?) p.(Asp163Val) Parent #1 - pathogenic g.3186274A>T - D163V/I223T - TRNT1_000026 - PubMed: Giannelou-2018 - rs146717589 Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 3 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+/. 5 c.488A>T r.(?) p.(Asp163Val) Parent #2 - pathogenic g.3186274A>T - R99W/ D163V - TRNT1_000026 - PubMed: Giannelou-2018 - rs146717589 Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 4 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
+/. 5 c.488A>T r.(?) p.(Asp163Val) Parent #2 - pathogenic g.3186274A>T - R99W/ D163V - TRNT1_000026 - PubMed: Giannelou-2018 - rs146717589 Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 5 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
?/. - c.505T>G r.(?) p.(Tyr169Asp) Unknown - VUS g.3186291T>G g.3144607T>G - - TRNT1_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-?/. - c.513T>C r.(?) p.(Asn171=) Unknown - likely benign g.3186299T>C - TRNT1(NM_182916.3):c.513T>C (p.N171=) - TRNT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.538A>T r.(?) p.(Lys180*) Unknown - likely pathogenic g.3186324A>T - TRNT1(NM_001367321.1):c.538A>T (p.K180*) - CRBN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542_545del r.(?) p.(Val181Aspfs*18) Unknown - pathogenic g.3186328_3186331del g.3144644_3144647del - - TRNT1_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs769317780 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 5 c.569G>T r.(?) p.(Arg190Ile) Both (homozygous) - pathogenic g.3186355G>T - c.569G>T - TRNT1_000027 - PubMed: Wedatilake-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA - WES retinal disease Patient 3 PubMed: Wedatilake-2016 - F yes - Pakistani - - - - 1 LOVD
+/. 5 c.569G>T r.(?) p.(Arg190Ile) Both (homozygous) - pathogenic g.3186355G>T - c.569G>T - TRNT1_000027 - PubMed: Wedatilake-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA - WES retinal disease Patient 4 PubMed: Wedatilake-2016 - M yes - Pakistani - - - - 1 LOVD
?/. - c.599G>A r.(?) p.(Arg200Lys) Unknown - VUS g.3186385G>A g.3144701G>A TRNT1(NM_182916.3):c.599G>A (p.R200K) - CRBN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.599G>A r.(?) p.(Arg200Lys) Unknown - VUS g.3186385G>A - TRNT1(NM_182916.3):c.599G>A (p.R200K) - CRBN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.608+1G>T r.spl? p.? Unknown - likely pathogenic g.3186395G>T - TRNT1(NM_001367321.1):c.608+1G>T - CRBN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608+1G>T r.spl? p.? Unknown - pathogenic g.3186395G>T - TRNT1(NM_001367321.1):c.608+1G>T - CRBN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.608+1G>T r.spl p.? Unknown - likely pathogenic g.3186395G>T g.3144711G>T - - CRBN_000018 variant likely contributes to DD/ID and immunodeficiency phenotype PubMed: Calame 2023 - - Germline - - - - - DNA SEQ-NG - - NDD BAB4646 PubMed: Calame 2023 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.609-26T>C r.spl p.? Parent #1 - likely pathogenic g.3188088T>C g.3146404T>C IVS5-26T>C - TRNT1_000018 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 286 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. 5i c.609-26T>C r.(=) p.(=) Parent #2 - likely pathogenic g.3188088T>C - c.609-26T > C - TRNT1_000018 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA dermal fibroblasts WES retinal disease Patient 2 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+?/. 5i c.609-26T>C r.(=) p.(=) Parent #2 - likely pathogenic g.3188088T>C - c.609-26T > C - TRNT1_000018 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA dermal fibroblasts WES retinal disease Patient 3 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+/. 6 c.644A>G r.(?) p.(His215Arg) Both (homozygous) - pathogenic g.3188149A>G - H215R/H215R - TRNT1_000028 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 1 PubMed: Giannelou-2018 - F yes - Saudi Arabian - - - - 1 LOVD
+/. 6 c.644A>G r.(?) p.(His215Arg) Both (homozygous) - pathogenic g.3188149A>G - H215R/H215R - TRNT1_000028 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 2 PubMed: Giannelou-2018 - F yes - Saudi Arabian - - - - 1 LOVD
-?/. - c.649C>G r.(?) p.(Pro217Ala) Unknown - likely benign g.3188154C>G - TRNT1(NM_001367321.1):c.649C>G (p.P217A) - CRBN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.668T>C r.(?) p.(Ile223Thr) Parent #2 - pathogenic g.3188173T>C - D163V/I223T - TRNT1_000029 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 3 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+/. 6 c.668T>C r.(?) p.(Ile223Thr) Parent #1 - pathogenic g.3188173T>C - I223T/S418Kfs*9 - TRNT1_000029 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 9 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
+/. 6 c.668T>C r.(?) p.(Ile223Thr) Parent #1 - pathogenic g.3188173T>C - c.668T>C, p.Ile223Thr - TRNT1_000029 - PubMed: Wedatilake-2016 - - Germline yes - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA - WES retinal disease Patient 1 PubMed: Wedatilake-2016 - F no - European - - - - 1 LOVD
+/. - c.668T>C r.(?) p.(Ile223Thr) Unknown - pathogenic g.3188173T>C - TRNT1(NM_182916.3):c.668T>C (p.(Ile223Thr)) - TRNT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.671C>T r.(?) p.(Ala224Val) Unknown - VUS g.3188176C>T g.3146492C>T TRNT1(NM_182916.3):c.671C>T (p.A224V) - TRNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697A>G r.(?) p.(Ile233Val) Unknown - VUS g.3188202A>G - TRNT1(NM_001302946.2):c.697A>G (p.I233V) - CRBN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700T>G r.(?) p.(Ser234Ala) Unknown - VUS g.3188205T>G g.3146521T>G TRNT1(NM_182916.3):c.700T>G (p.S234A) - CRBN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744T>C r.(?) p.(Gly248=) Unknown - likely benign g.3188249T>C - TRNT1(NM_182916.3):c.744T>C (p.G248=) - CRBN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749A>G r.(?) p.(His250Arg) Unknown - VUS g.3188254A>G g.3146570A>G - - TRNT1_000010 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs569328524 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.810_811insAAACTT r.(?) p.(Pro270_Ala271insLysLeu) Unknown - VUS g.3189141_3189142insAAACTT g.3147457_3147458insAAACTT - - TRNT1_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527331900 Germline - 14/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 14 Yoshito Koyanagi
-/. - c.810_811insAAACTT r.(?) p.(Pro270_Ala271insLysLeu) Unknown - benign g.3189141_3189142insAAACTT g.3147457_3147458insAAACTT TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL) - TRNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810_811insAAACTT r.(?) p.(Pro270_Ala271insLysLeu) Unknown - likely benign g.3189141_3189142insAAACTT g.3147457_3147458insAAACTT TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL) - TRNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810_811insAAACTT r.(?) p.(Pro270_Ala271insLysLeu) Unknown - likely benign g.3189141_3189142insAAACTT - TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL) - TRNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887T>C r.(?) p.(Leu296Ser) Unknown - VUS g.3189218T>C - TRNT1(NM_182916.3):c.887T>C (p.(Leu296Ser)) - CRBN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975T>G r.(?) p.(Phe325Leu) Unknown - likely benign g.3189306T>G - TRNT1(NM_182916.3):c.975T>G (p.F325L) - CRBN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107A>G r.(?) p.(Gln369=) Unknown - likely benign g.3189640A>G - TRNT1(NM_001367321.1):c.1107A>G (p.Q369=) - CRBN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125A>G r.(?) p.(=) Unknown - likely benign g.3189658A>G - TRNT1(NM_001367321.1):c.1125A>G (p.L375=) - CRBN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144T>C r.(?) p.(Ser382Pro) Unknown - VUS g.3189677T>C - TRNT1(NM_182916.3):c.1144T>C (p.(Ser382Pro)) - CRBN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1150_1157del r.(?) p.(Pro384SerfsTer6) Unknown - pathogenic g.3189683_3189690del g.3147999_3148006del TRNT1(NM_182916.3):c.1150_1157delCCTCCATT (p.P384Sfs*6) - CRBN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1154C>T r.(?) p.(Pro385Leu) Unknown - VUS g.3189687C>T - TRNT1(NM_182916.3):c.1154C>T (p.P385L) - CRBN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1172A>G r.(?) p.(His391Arg) Unknown - likely benign g.3189705A>G - TRNT1(NM_182916.3):c.1172A>G (p.H391R) - CRBN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1234C>T r.(?) p.(Arg412*) Unknown - pathogenic g.3189767C>T - TRNT1(NM_182916.3):c.1234C>T (p.R412*) - CRBN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1240C>T r.(?) p.(Gln414*) Parent #2 - likely pathogenic g.3189773C>T - c.1240C>T - TRNT1_000032 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.1240C>T r.(?) p.(Gln414*) Unknown - likely pathogenic g.3189773C>T - TRNT1(NM_182916.3):c.1240C>T (p.Q414*) - TRNT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1246A>G r.(?) p.(Lys416Glu) Parent #1 - pathogenic g.3189779A>G - K416E/S418Kfs*9 - CRBN_000020 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 8 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+?/. - c.1246A>G r.(?) p.(Lys416Glu) Unknown - likely pathogenic g.3189779A>G - - - CRBN_000020 variant likely contributes to DD/ID and immunodeficiency phenotype PubMed: Calame 2023 - - Germline - - - - - DNA SEQ-NG - - NDD BAB4646 PubMed: Calame 2023 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1252del r.(?) p.(Ser418Valfs*11) Parent #2 - likely pathogenic g.3189785del g.3148101del 1246delA - TRNT1_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 80 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 8 c.1252del r.(?) p.(Ser418Valfs*11) Parent #1 - likely pathogenic g.3189785del - c.1246delA - TRNT1_000019 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG dermal fibroblasts WES retinal disease Patient 1 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+?/. 8 c.1252del r.(?) p.(Ser418Valfs*11) Parent #1 - likely pathogenic g.3189785del - c.1246delA - TRNT1_000019 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA dermal fibroblasts WES retinal disease Patient 2 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+?/. 8 c.1252del r.(?) p.(Ser418Valfs*11) Parent #1 - likely pathogenic g.3189785del - c.1246delA - TRNT1_000019 - PubMed: DeLuca-2016 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR, Western, SSCA dermal fibroblasts WES retinal disease Patient 3 PubMed: DeLuca-2016 - M - - - - - - - 1 LOVD
+?/. - c.1252dup r.(?) p.(Ser418Lysfs*9) Unknown - likely pathogenic g.3189785dup - TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9) - CRBN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1252dup r.(?) p.(Ser418Lysfs*9) Parent #2 - likely pathogenic g.3189785dup g.3148101dup 1245_1246insA - CRBN_000015 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 286 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. 8 c.1252dup r.(?) p.(Ser418Lysfs*9) Parent #2 - pathogenic g.3189785dup - K416E/S418Kfs*9 - CRBN_000015 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 8 PubMed: Giannelou-2018 - M no - Mixed European - - - - 1 LOVD
+/. 8 c.1252dup r.(?) p.(Ser418Lysfs*9) Parent #2 - pathogenic g.3189785dup - I223T/S418Kfs*9 - CRBN_000015 - PubMed: Giannelou-2018 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ Peripheral blood mononuclear cells (PBMCs) WES retinal disease Patient 9 PubMed: Giannelou-2018 - F no - Mixed European - - - - 1 LOVD
+?/. - c.1252dup r.(?) p.(Ser418Lysfs*9) Unknown - likely pathogenic g.3189785dup - TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9) - CRBN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1292T>C r.(?) p.(Ile431Thr) Unknown - likely benign g.3189825T>C g.3148141T>C TRNT1(NM_001367321.1):c.1292T>C (p.I431T) - CRBN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5820C>G r.(=) p.(=) Unknown - VUS g.3195658C>G - CRBN(NM_016302.4):c.937G>C (p.(Asp313His)) - CRBN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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